For those who don't know, Madeline has been diagnosed with dwarfism. This wasn't a huge surprise to me & Mike since my high-risk doctor had noticed some interesting things back on that ultrasound several months ago. But since I never got a chance to give any details here about her birth, I thought I'd explain more now about how she is being diagnosed.
We were aware that Madeline probably had some kind of skeletal dysplasia, which could range from something very mild to some horrible life-threatening condition. My doctor thought there was a good chance that she had achondroplasia, the most common form of dwarfism. We just had to wait until the birth to find out. The first step would be for a doctor to simply look at her after the birth. During my c-section, a doctor from the NICU (Dr. A) was in the operating room to evaluate Madeline as soon as she was born and determine whether she was healthy enough to stay with us, or whether they'd have to whisk her off to the NICU. After she was born Dr. A examined her and told Mike it looked like Maddy did have dwarfism and that she'd order some tests for further evaluation. I can't explain how relieved we were that she seemed to be healthy and did not have any immediate medical problems.
The next step was a skeletal survey, which is a whole bunch of x-rays. From this, a radiologist determined that she had many of the characteristics of achondroplasia - but there were some things that might point to a different form of dwarfism, so he couldn't make a definite diagnosis. While we were still in the hospital, Dr. A decided to proceed as if Madeline did indeed have achondroplasia and ordered a brain MRI to rule out certain problems that might come with that condition. The results were normal.
Dr. A also explained a bit more about dwarfism and how it may affect the future for Madeline and our family. In the long term, we don't know if she will have any medical complications. She may need access to specific kinds of medical resources when we get back to the states. She could possibly need resources like speech therapy, physical therapy and occupational therapy. Or she may not need any of that. But for now, we know to be prepared for possible delays in developmental milestones such as sitting up unassisted, crawling, and walking. Because her head is large and she has decreased muscle tone, we need to avoid using baby equipment that does not provide support for her head since she will probably have trouble holding her head up for a while. She may be more likely to have ear infections, and we need to watch out for sleep apnea. She is scheduled for a sleep study in February.
We are taking Madeline to a wonderful pediatrician, Dr. O, at the Army hospital where she was born. Dr. O pointed out some of Madeline's physical traits other than her short arms and legs that indicate achondroplasia, like the shape of her face, her prominent forehead, and the shape of her nose and eyes. At one appointment she was slightly concerned about a sudden increase in Maddy's head measurement so she ordered an ultrasound to make sure there was no hydrocephalus, or "fluid on the brain" (there wasn't). This is a common concern in kids with achondroplasia. Dr. O also sent us to a German clinic in Heidelberg to speak with a genetic counselor and have bloodwork taken to see if they can confirm that Maddy has achondroplasia, and if not, what kind of dwarfism she does have. We saw that doctor this week and hope to have the results from the blood test in about a month. The genetic counselor said that it's certainly not necessary for us to do the blood test, but we'd like to have a definite diagnosis if possible because it would help us know what kinds of medical issues could be down the line.
All of this is very new to us. First we were advised to not do too much research while I was pregnant (my doctor didn't want us stressed over nothing until we knew what we were dealing with), and then we scrambled to find information once she was born. And while we've gotten great support from Madeline's doctors, they have very limited experience with dwarfism. We are doing a lot of research on our own. Mike and my sister Katie found the website for Little People of America, and it offers a lot of super-helpful information. I also hope it will provide some social support for us as Maddy gets older.
Right now it's easy for me & Mike to forget she has dwarfism. She is just our sweet baby girl. There are only a few things we need to deal with that are different than what we're used to. She is quite a bit top-heavy and we have to carefully support her head, and she has some feeding issues possibly due to lack of muscle tone in her face and tongue. And I will need to learn how to hem her clothing - her newborn clothes fit her torso just fine, but her arms and legs get lost in the sleeves and pants. She looks awfully cute in all the girlie outfits we have for her. She is adorable in pink (thankfully, since that's most of her wardrobe!) and it looks like her eyes are already starting to turn brown. I'd be shocked if they were any other color. So far Ben is very good with her. He kisses her goodnight, and he helps to feed her bottles. I know Madeline's not even a month old yet, but right now she's a calm, mild-mannered baby. I can take her in the car without her screaming her head off like her brother did when he was a baby, and she only cries when she's hungry or uncomfortable. She makes the most darling facial expressions. I love that she loves to snuggle. We're looking forward to seeing more and more of her personality come through over the next few months.
